Sweet K, Sturm A C, Schmidlen T, Hovick S, Peng J, Manickam K, Salikhova A, McElroy J, Scheinfeldt L, Toland A E, Roberts J S, Christman M
Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, OH, USA.
Coriell Personalized Medicine Collaborative, Coriell Institute for Medical Research, Camden, NJ, USA.
Clin Genet. 2017 Apr;91(4):545-556. doi: 10.1111/cge.12820. Epub 2016 Jul 28.
Genomic risk information for potentially actionable complex diseases and pharmacogenomics communicated through genomic counseling (GC) may motivate physicians and patients to take preventive actions. The Ohio State University-Coriell Personalized Medicine Collaborative is a randomized trial to measure the effects of in-person GC on chronic disease patients provided with multiplex results. Nine personalized genomic risk reports were provided to patients through a web portal, and to physicians via electronic medical record (EMR). Active arm participants (98, 39% female) received GC within 1 month of report viewing; control arm subjects (101, 54% female) could access counseling 3-months post-report viewing. We examined whether GC affected documentation of physician-patient communication by reviewing the first clinical note following the patient's GC visit or report upload to the EMR. Multivariable logistic regression modeling estimated the independent effect of GC on physician-patient communication, as intention to treat (ITT) and per protocol (PP), adjusted for physician educational intervention. Counselees in the active arm had more physician-patient communications than control subjects [ITT, odds ratio (OR): 3.76 (95% confidence interval (CI): 1.38-10.22, p < 0.0094); PP, OR: 5.53 (95% CI: 2.20-13.90, p = 0.0017). In conclusion, GC appreciably affected physician-patient communication following receipt of potentially actionable genomic risk information.
通过基因咨询(GC)传达的针对潜在可采取行动的复杂疾病和药物基因组学的基因组风险信息,可能会促使医生和患者采取预防措施。俄亥俄州立大学 - 科里尔个性化医学协作项目是一项随机试验,旨在衡量面对面基因咨询对获得多重检测结果的慢性病患者的影响。通过网络门户向患者提供了九份个性化基因组风险报告,并通过电子病历(EMR)向医生提供。试验组参与者(98人,39%为女性)在查看报告后1个月内接受了基因咨询;对照组受试者(101人,54%为女性)可在查看报告3个月后获得咨询服务。我们通过审查患者基因咨询就诊或报告上传至电子病历后的第一份临床记录,来研究基因咨询是否影响医患沟通记录。多变量逻辑回归模型估计了基因咨询对医患沟通的独立影响,采用意向性分析(ITT)和符合方案分析(PP),并对医生教育干预进行了调整。试验组的咨询对象比对照组有更多的医患沟通[ITT,优势比(OR):3.76(95%置信区间(CI):1.38 - 10.22,p < 0.0094);PP,OR:5.53(95%CI:2.20 - 13.90,p = 0.0017)]。总之,在收到潜在可采取行动的基因组风险信息后,基因咨询对医患沟通有显著影响。